Tags: Disease.
Harderoporphyria is a rare disorder of heme biosynthesis inherited in an autosomal recessive manner caused by specific mutations in the CPOX gene. Mutations in CPOX usually cause hereditary coproporphyria an acute hepatic porphyria however the K404E mutation in a homozygous or compound heterozygous state with a null allele cause the more severe harderoporphyria.